Mutagenetix > Incidental Mutation

Incidental Mutation 'R9516:Brsk2'

718571

Institutional Source

Beutler Lab

Gene Symbol

Brsk2

Ensembl Gene

ENSMUSG00000053046

Gene Name

BR serine/threonine kinase 2

Synonyms

SAD-A, 4833424K13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141503488-141557981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141546852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 432 (T432A)

Ref Sequence

ENSEMBL: ENSMUSP00000077330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018971] [ENSMUST00000075528] [ENSMUST00000078200] [ENSMUST00000105989] [ENSMUST00000172652] [ENSMUST00000173705] [ENSMUST00000174237] [ENSMUST00000174309] [ENSMUST00000174405] [ENSMUST00000174499]

AlphaFold

Q69Z98

Predicted Effect

probably benign
Transcript: ENSMUST00000018971
AA Change: T432A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046
AA Change: T432A

Domain	Start	End	E-Value	Type
S_TKc	20	271	3.65e-99	SMART
low complexity region	410	429	N/A	INTRINSIC
low complexity region	456	475	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075528
AA Change: T432A

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: T432A

Domain	Start	End	E-Value	Type
S_TKc	20	271	3.65e-99	SMART
low complexity region	410	429	N/A	INTRINSIC
low complexity region	456	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078200
AA Change: T432A

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046
AA Change: T432A

Domain	Start	End	E-Value	Type
S_TKc	20	271	3.65e-99	SMART
low complexity region	410	429	N/A	INTRINSIC
low complexity region	456	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105989
AA Change: T432A

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046
AA Change: T432A

Domain	Start	End	E-Value	Type
S_TKc	20	271	3.65e-99	SMART
low complexity region	410	429	N/A	INTRINSIC
low complexity region	456	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172652
AA Change: T454A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046
AA Change: T454A

Domain	Start	End	E-Value	Type
S_TKc	20	271	3.65e-99	SMART
low complexity region	432	451	N/A	INTRINSIC
low complexity region	478	497	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046
AA Change: T400A

Domain	Start	End	E-Value	Type
S_TKc	3	240	6.78e-85	SMART
low complexity region	379	398	N/A	INTRINSIC
low complexity region	425	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173313

SMART Domains

Protein: ENSMUSP00000133868
Gene: ENSMUSG00000053046

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Blast:S_TKc	14	61	3e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173705

SMART Domains

Protein: ENSMUSP00000134170
Gene: ENSMUSG00000053046

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	111	4.4e-10	PFAM
Pfam:Pkinase	1	113	2e-24	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134153
Gene: ENSMUSG00000053046
AA Change: T260A

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	98	3.7e-13	PFAM
Pfam:Pkinase	1	209	2.6e-29	PFAM
low complexity region	239	258	N/A	INTRINSIC
low complexity region	285	304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174237

SMART Domains

Protein: ENSMUSP00000134566
Gene: ENSMUSG00000053046

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
Blast:S_TKc	32	79	6e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174309
AA Change: T243A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134310
Gene: ENSMUSG00000053046
AA Change: T243A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	82	7.1e-13	PFAM
low complexity region	221	240	N/A	INTRINSIC
low complexity region	267	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174405

SMART Domains

Protein: ENSMUSP00000134289
Gene: ENSMUSG00000053046

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	92	1e-13	PFAM
Pfam:Pkinase_Tyr	20	92	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174499
AA Change: T432A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: T432A

Domain	Start	End	E-Value	Type
S_TKc	20	271	3.65e-99	SMART
low complexity region	410	429	N/A	INTRINSIC
low complexity region	456	475	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice are healthy and fertile. Mice homozygous for a condition allele activated in sensory and motor neurons exhibit partial neonatal lethality, hypokinesis, absnece of gastric milk and abnormal type Ia proprioceptive sensory neuron projections [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	T	C	2: 150,153,122 (GRCm39)	N88D	possibly damaging	Het
4933430I17Rik	A	G	4: 62,460,916 (GRCm39)	I264V	probably benign	Het
Abcc8	A	G	7: 45,787,429 (GRCm39)	F591L	probably benign	Het
Abr	G	T	11: 76,310,658 (GRCm39)	T810K	probably damaging	Het
Abracl	T	C	10: 17,894,631 (GRCm39)	E6G	unknown	Het
Adamts3	A	T	5: 89,834,750 (GRCm39)	Y871N	probably damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Alas1	A	G	9: 106,115,840 (GRCm39)		probably null	Het
Anapc1	A	C	2: 128,517,633 (GRCm39)	L337R	possibly damaging	Het
Apaf1	T	C	10: 90,915,816 (GRCm39)	Y24C	probably damaging	Het
Arhgef16	A	G	4: 154,365,432 (GRCm39)	V561A	possibly damaging	Het
Atp10b	T	A	11: 43,121,224 (GRCm39)	H962Q	probably benign	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Caps2	A	T	10: 112,036,637 (GRCm39)	H399L	probably benign	Het
Ccdc43	C	A	11: 102,577,207 (GRCm39)	K199N	probably benign	Het
Ccdc7a	G	T	8: 129,555,774 (GRCm39)	P1198T	unknown	Het
Cct7	A	G	6: 85,444,625 (GRCm39)	Y423C	possibly damaging	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep250	A	G	2: 155,833,459 (GRCm39)	T1795A	probably benign	Het
Clasp1	T	G	1: 118,431,560 (GRCm39)	S397A	possibly damaging	Het
Clock	A	C	5: 76,377,227 (GRCm39)	F691V	possibly damaging	Het
Cmklr1	A	G	5: 113,752,341 (GRCm39)	V220A	probably benign	Het
Coro2b	A	T	9: 62,335,291 (GRCm39)	Y298*	probably null	Het
Cspg4b	A	T	13: 113,455,649 (GRCm39)	N565I		Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dlk2	G	A	17: 46,613,432 (GRCm39)	G186D	probably damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dok3	A	G	13: 55,672,186 (GRCm39)	I164T	probably benign	Het
Ercc5	T	A	1: 44,207,041 (GRCm39)	D651E	probably damaging	Het
Erp27	T	C	6: 136,885,066 (GRCm39)	K244R	probably benign	Het
Fhip1a	G	A	3: 85,580,559 (GRCm39)	Q549*	probably null	Het
Flvcr2	T	C	12: 85,793,954 (GRCm39)	V110A	possibly damaging	Het
Gsta3	T	C	1: 21,320,060 (GRCm39)	L22P	probably damaging	Het
Hdac5	T	C	11: 102,093,522 (GRCm39)	T493A	probably benign	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Hmox1	A	G	8: 75,823,544 (GRCm39)	N71D	probably benign	Het
Hnrnpr	G	T	4: 136,063,615 (GRCm39)	V342F	probably damaging	Het
Ifi44	T	C	3: 151,438,108 (GRCm39)	D393G	probably damaging	Het
Ighv1-82	A	T	12: 115,916,566 (GRCm39)	F9I	probably damaging	Het
Kalrn	A	G	16: 33,854,864 (GRCm39)	S1999P	probably damaging	Het
Kcnq2	A	G	2: 180,776,753 (GRCm39)	S45P	probably benign	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Kti12	T	C	4: 108,705,476 (GRCm39)	V130A	probably benign	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Med13	A	T	11: 86,179,801 (GRCm39)	N1382K	probably benign	Het
Mrpl42	A	G	10: 95,332,684 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,569,103 (GRCm39)	D1140G	probably benign	Het
Mtrr	A	G	13: 68,720,755 (GRCm39)	I280T	probably benign	Het
Myh4	A	T	11: 67,139,290 (GRCm39)	I536F	probably damaging	Het
Myh4	T	A	11: 67,141,129 (GRCm39)	N730K	probably damaging	Het
Nat10	A	C	2: 103,563,364 (GRCm39)	L545R	probably damaging	Het
Nav3	T	A	10: 109,520,015 (GRCm39)	D2356V	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Nlrp1a	T	C	11: 70,998,488 (GRCm39)	T904A	probably benign	Het
Nod2	A	T	8: 89,397,050 (GRCm39)	N820I	probably damaging	Het
Nptx1	A	G	11: 119,433,381 (GRCm39)	V406A	probably damaging	Het
Nrdc	T	A	4: 108,901,863 (GRCm39)	I644K	probably benign	Het
Or4e1	T	C	14: 52,700,873 (GRCm39)	I198V	probably benign	Het
Ostf1	T	A	19: 18,573,735 (GRCm39)	I38F	probably benign	Het
Pacc1	G	A	1: 191,082,004 (GRCm39)	R337Q	probably damaging	Het
Pde4b	G	T	4: 102,462,183 (GRCm39)	D605Y	probably damaging	Het
Pde4d	A	G	13: 109,397,196 (GRCm39)	T3A		Het
Pknox1	A	G	17: 31,822,183 (GRCm39)	I317V	probably damaging	Het
Plekhh2	A	G	17: 84,918,240 (GRCm39)	N1283S	probably benign	Het
Ppp3cb	G	A	14: 20,573,868 (GRCm39)	A289V	probably damaging	Het
Prag1	A	G	8: 36,607,208 (GRCm39)	D983G	probably damaging	Het
Psmd13	C	T	7: 140,478,455 (GRCm39)	T62M		Het
Rab42	C	T	4: 132,029,890 (GRCm39)	V111I		Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Rapgef6	T	A	11: 54,582,169 (GRCm39)	S1365R	probably damaging	Het
Rassf4	G	T	6: 116,617,265 (GRCm39)	H247N	possibly damaging	Het
Rbfox1	A	G	16: 7,227,573 (GRCm39)	T363A	probably benign	Het
Rbmyf9	T	A	Y: 3,774,888 (GRCm39)	F28L	probably damaging	Het
Sbf1	T	C	15: 89,184,742 (GRCm39)	D1091G	probably damaging	Het
Scaper	A	G	9: 55,593,275 (GRCm39)	V454A	probably benign	Het
Selenbp2	G	A	3: 94,607,352 (GRCm39)	D258N	probably benign	Het
Sirpa	A	T	2: 129,457,555 (GRCm39)	I210F	probably damaging	Het
Skint4	T	C	4: 112,015,236 (GRCm39)	S434P	probably benign	Het
Slc26a5	G	A	5: 22,016,337 (GRCm39)	Q682*	probably null	Het
Slco4a1	C	T	2: 180,115,943 (GRCm39)	S693F	possibly damaging	Het
Smpd3	A	G	8: 106,992,119 (GRCm39)	F145L	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spata31d1c	A	T	13: 65,184,040 (GRCm39)	L527F	probably damaging	Het
Srd5a3	A	G	5: 76,297,794 (GRCm39)	N199D	probably benign	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Sytl1	A	G	4: 132,986,291 (GRCm39)		probably null	Het
Tas2r126	A	G	6: 42,412,307 (GRCm39)	H280R	probably null	Het
Tcf4	C	T	18: 69,652,944 (GRCm39)		probably benign	Het
Tlcd2	A	G	11: 75,359,112 (GRCm39)	T28A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem119	A	G	5: 113,933,267 (GRCm39)	L178P	probably damaging	Het
Tmprss7	T	C	16: 45,484,564 (GRCm39)	D532G	probably benign	Het
Tnfaip8l3	A	G	9: 53,934,777 (GRCm39)	I66T	probably benign	Het
Tor1b	A	G	2: 30,843,185 (GRCm39)	Y50C	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trip12	A	T	1: 84,735,215 (GRCm39)	V932E	probably damaging	Het
Ttn	T	A	2: 76,777,104 (GRCm39)	T1479S	unknown	Het
Unc13c	A	T	9: 73,392,220 (GRCm39)	V2044D	probably damaging	Het
Usp25	T	G	16: 76,852,076 (GRCm39)	V197G	probably damaging	Het
Vmn2r34	A	G	7: 7,675,366 (GRCm39)	V674A	probably benign	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp821	A	G	8: 110,447,856 (GRCm39)	T66A	probably damaging	Het
Zfp97	T	A	17: 17,365,930 (GRCm39)	N476K	possibly damaging	Het

Other mutations in Brsk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Brsk2	APN	7	141,535,292 (GRCm39)	missense	possibly damaging	0.53
IGL02243:Brsk2	APN	7	141,547,036 (GRCm39)	missense	probably damaging	1.00
R0400:Brsk2	UTSW	7	141,552,290 (GRCm39)	missense	probably damaging	1.00
R0609:Brsk2	UTSW	7	141,552,229 (GRCm39)	missense	probably damaging	0.99
R0972:Brsk2	UTSW	7	141,547,441 (GRCm39)	splice site	probably benign
R1699:Brsk2	UTSW	7	141,539,200 (GRCm39)	missense	probably damaging	0.97
R3928:Brsk2	UTSW	7	141,552,155 (GRCm39)	missense	probably damaging	1.00
R5357:Brsk2	UTSW	7	141,538,248 (GRCm39)	missense	possibly damaging	0.55
R5411:Brsk2	UTSW	7	141,554,594 (GRCm39)	missense	probably benign	0.03
R5461:Brsk2	UTSW	7	141,541,643 (GRCm39)	missense	probably damaging	1.00
R6813:Brsk2	UTSW	7	141,556,214 (GRCm39)	missense	probably benign	0.00
R6966:Brsk2	UTSW	7	141,538,270 (GRCm39)	missense	possibly damaging	0.48
R7560:Brsk2	UTSW	7	141,554,597 (GRCm39)	missense	probably benign	0.00
R7810:Brsk2	UTSW	7	141,539,157 (GRCm39)	splice site	probably null
R7922:Brsk2	UTSW	7	141,546,957 (GRCm39)	missense	possibly damaging	0.63
R8254:Brsk2	UTSW	7	141,538,153 (GRCm39)	missense	probably damaging	1.00
R8336:Brsk2	UTSW	7	141,538,211 (GRCm39)	missense	probably damaging	1.00
R8798:Brsk2	UTSW	7	141,541,601 (GRCm39)	missense	probably damaging	1.00
R8859:Brsk2	UTSW	7	141,552,415 (GRCm39)	missense	probably damaging	1.00
R9225:Brsk2	UTSW	7	141,547,039 (GRCm39)	missense	probably damaging	1.00
R9296:Brsk2	UTSW	7	141,552,375 (GRCm39)	missense	probably benign	0.09
R9347:Brsk2	UTSW	7	141,552,133 (GRCm39)	missense	probably damaging	0.97
R9445:Brsk2	UTSW	7	141,538,149 (GRCm39)	missense	probably damaging	1.00
R9466:Brsk2	UTSW	7	141,536,800 (GRCm39)	missense	probably benign	0.01
R9494:Brsk2	UTSW	7	141,555,955 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AAGACTCAGACCTTGCCGTG -3'
(R):5'- TAACCTTGGAGTTTCCGGC -3'

Sequencing Primer
(F):5'- TGCAAGGCCAAGCTGAC -3'
(R):5'- TGGAATCGAGGTGAGCCC -3'

Posted On

2022-07-18